RGD:15166764 Rat Genome Database

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Variant: RGD:15166764 -  Homo sapiens

RGD ID: 15166764
RS ID: rs151065075
ClinVar ID: CV706676
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126805857  MCL1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 150,551,649
GRCh38 1 150,579,173
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_182763.3:c.358A>G
NM_001197320.2:c.109-210A>G
NC_000001.10:g.150551649T>C
NM_021960.5:c.358A>G
More... 		07/11/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MCL1
Accession:NM_021960
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFGLKRNAVIGLNLYCGGAGLGAGSGGATRPGGRLLATEKEASARREIGGGEAGAVIGGSAGASPPSTLTPDSRRVARPP
PIGAEVPDVTATPARLLFFAPTRRAAPLEEMEAPAADAIVSPEEELDGYEPEPLGKRPAVLPLLELVGESGNNTSTDGSL
PSTPPPAEEEEDELYRQSLEIISRYLREQATGAKDTKPMGRSGATSRKALETLRRVGDGVQRNHETAFQGMLRKLDIKNE
DDVKSLSRVMIHVFSDGVTNWGRIVTLISFGAFVAKHLKTINQESCIEPLAESITDVLVRTKRDWLVKQRGWDGFVEFFH
VEDLEGGIRNVLLAFAGVAGVGAGLAYLIR*

Gene Symbol:MCL1
Accession:NM_182763
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFGLKRNAVIGLNLYCGGAGLGAGSGGATRPGGRLLATEKEASARREIGGGEAGAVIGGSAGASPPSTLTPDSRRVARPP
PIGAEVPDVTATPARLLFFAPTRRAAPLEEMEAPAADAIVSPEEELDGYEPEPLGKRPAVLPLLELVGESGNNTSTDGSL
PSTPPPAEEEEDELYRQSLEIISRYLREQATGAKDTKPMGRSGATSRKALETLRRVGDGVQRNHETAFQGWVCGVLPCRG
PRRWHQECAAGFCRCCWSRSWFGISNKIALL*

Gene Symbol:MCL1
Accession:NM_001197320
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000971254 CLINVAR
dbSNP (RS) rs151065075 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene LOC126805857 CLINVAR
  MCL1 CLINVAR
OMIM 159552 CLINVAR